A new therapy for cystic fibrosis can now improve a patient’s breathing and target the genetic cause of the debilitating disease. This lifelong disease affects about 70,000 children and adults worldwide and 30,000 in the United States.
Although it seemed impossible 20 years ago that a small molecule could correct a malfunctioning protein, this scenario became possible after Trikafta, a new drug manufactured by Vertex Pharmaceuticals to treat cystic fibrosis (CF) was approved by the U.S. Food and Drug Adminstrationistration on October 21, 2019, for a large percentage of CF patients.
Living With CF
Cystic Fibrosis is an incurable inherited disorder that damages many organs. It causes thick, sticky mucus in the lungs and digestive system and plugs up the body's passageways, tubes, and ducts rather than lubricating them.
Children with CF have delayed development and slow growth, including delayed puberty. The varied symptoms include coughing, recurring lung infections, and problems gaining healthy body weight.
Those with the condition might experience abdominal pain, chronic coughing with blood or phlegm, and gastrointestinal issues, such as heartburn or diarrhea.
Respiratory ailments like wheezing, sinusitis, or shortness of breath are common. Additionally, most people with CF also feel exhausted most of the time, finding exercise almost impossible to do. Because of their chronic fatigue, they are also more accident-prone.
Treatments focus on easing uncomfortable symptoms and reducing the risk of more serious complications. Consequently, those with the condition often use sodium chloride for supportive care and pneumococcal vaccine for preventative care. Furthermore, people with CF habitually rely on cough medicines, penicillin antibiotics, other types of antibiotics, as well as dietary supplements to manage their recurring ill-health.
Besides working with a primary care provider, a CF patient will see several specialists when their symptoms exacerbate. For instance, they might see a respiratory therapist, a medical geneticist, a pediatrician, a nutritionist, a physical therapist, a gastroenterologist, or a pulmonologist.
Finding the Needle in A Haystack
A Washington Post health article, reports how the director of the National Institutes of Health, Francis Collins, was overjoyed at hearing about the medical breakthrough.
Collins discovered the gene responsible for cystic fibrosis in 1989. This discovery gave scientists a vital clue on where to look for the misfolded protein that failed to keep the right balance of salt and water in the fluids of the lungs.
Trikafta belongs to a therapeutic group called CFTR modulators that affect the CFTR (cystic fibrosis transmembrane conductance regulator) gene. Essentially, these modulators restore normal functioning of the mutant CFTR gene called the F508del.
Trikafta is a combination of three drugs — tezacaftor, ivacaftor, and elexacaftor, and it costs $311,000 a year.
Vertex Pharmaceuticals also manufactures three other CFTR modulators, such as Kalydeco, Orkambi, and Symdeko but none of these have been as revolutionary as Trikafta. This is because 90% of people who have cystic fibrosis have a single F508del mutation copy — and Trikafta works well for this population.
In an interview with Cystic Fibrosis News Today, Jeffrey Leiden, the chairman, president and CEO of Vertex Pharmaceuticals described how the idea of treating the F508del mutation in the CFTR gene was once dismissed as ludicrous. “No one thought that was possible,” he said. “People laughed at that at the beginning.”
“Dare to Dream”
After Francis Collins discovered the gene that caused CF in 1989, he wrote a celebratory song, "Dare to Dream.” Collins now plans to sing it at a cystic fibrosis community celebration with 3,000 other people.
Although he had identified the gene, other essential molecular biological discoveries remained elusive, and it would take a few more decades for a treatment option to become available.
Medical Breakthrough Promises New Hope
In earlier decades, people with the disease had a poor quality of life, but with modern improvements in newborn screenings, diagnosis, treatment, and daily care, those with CF can now attend a school or go to work at a job. Longevity has also improved. On average, people with CF live into their thirties, with some living into their forties and fifties.
Those with CF endure a variety of physical, emotional, social, mental, and spiritual challenges. Physically, they may have headaches, upset stomachs, back pain, and insomnia. Emotionally, they may feel frustrated, depressed, and anxious; socially, they may feel isolated, finding it difficult to enjoy social diversions and activities; mentally, they may suffer from confusion, a low attention span, and forgetfulness; and spiritually, they may undergo an existential crisis, feeling alienated, helpless, and hopeless.
This entire scenario is now set to change with the new medical treatment now available for 90% of those who have the condition.
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